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 GROUPS:

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 CHR:

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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 4

Genes:
H3F3A, PDGFRA, PIK3R1, TP53,

+ Genes associated with diseases 3

Genes at Omim

PDGFRA, PIK3R1, TP53,
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PIK3R1 Immunodeficiency 36, 616005 (3)
SHORT syndrome, 269880 (3)
?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
TP53 {Choroid plexus papilloma}, 260500 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
{Colorectal cancer}, 114500 (3)
{Glioma susceptibility 1}, 137800 (3)
{Osteosarcoma}, 259500 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)

Genes at Clinical Genomics Database

PDGFRA, PIK3R1, TP53,
PDGFRA Gastrointestinal stromal tumor
PIK3R1 Agammaglobulinemia 7, autosomal recessive
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer

Genes at HGMD

Summary

Number of Variants: 63
Number of Genes: 4

Export to: CSV
  • Page 1 of 1

H3F3A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dipg0076_interval TUMOR 1 . 226252135 0.0 A T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.53 None None None None None None H3F3A|0.999921271|0.17%

PDGFRA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dipg0076_interval TUMOR 4 . 55144148 0.0 C G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None None

PIK3R1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dipg0076_interval TUMOR 5 . 67588089 0.0 C T t_lod_fstar 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None PIK3R1|0.917149804|3.05%

TP53
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dipg0076_interval TUMOR 17 . 7577559 0.0 G T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dipg0076_interval TUMOR 4 . 55111766 0.0 C G alt_allele_in_normal;clustered_events;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 4 . 55111822 0.0 C G alt_allele_in_normal;clustered_events;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 4 . 55111830 0.0 C A alt_allele_in_normal;clustered_events;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 4 . 55137760 0.0 G T clustered_events;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 4 . 55137763 0.0 A C clustered_events;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 4 . 55151330 0.0 T A clustered_events;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 4 . 55151344 0.0 T A clustered_events;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 5 rs879002798
dbSNP Clinvar 		1260515 0.0 GCA G str_contraction 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 5 . 1265608 0.0 G T t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 6 rs760111246
dbSNP Clinvar 		41955215 0.0 TT... T alt_allele_in_normal;germline_risk;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 6 . 42015773 0.0 C A clustered_events;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 6 . 42015780 0.0 G T clustered_events;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 7 rs941601539
dbSNP Clinvar 		55106437 0.0 ATG A str_contraction;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 7 . 55108674 0.0 G T PASS 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 7 rs142192851
dbSNP Clinvar 		55136462 0.0 AAG A alt_allele_in_normal;str_contraction;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 15 . 88657097 0.0 C CACCG clustered_events;multi_event_alt_allele_in_normal 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 15 . 88657098 0.0 T A clustered_events;multi_event_alt_allele_in_normal 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 15 . 88707650 0.0 C G t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 15 . 88711357 0.0 G GA... t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 15 rs755023468
dbSNP Clinvar 		88799571 0.0 ACGC A str_contraction;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 17 . 29615883 0.0 C A t_lod_fstar 0/1 0 None None None None None None None None None NF1|0.993936903|0.88%,OMG|0.766462087|6.7%
View dipg0076_interval TUMOR X . 39954997 0.0 A C alt_allele_in_normal;clustered_events 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR X . 39955003 0.0 A C alt_allele_in_normal;clustered_events 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR X . 39955007 0.0 T C clustered_events;multi_event_alt_allele_in_normal 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR X . 39955009 0.0 CAGA C alt_allele_in_normal;clustered_events 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR X . 39955014 0.0 G C clustered_events;homologous_mapping_event 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR X rs867685494
dbSNP Clinvar 		40013816 0.0 A C alt_allele_in_normal;germline_risk;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR X . 40023591 0.0 TG... T t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR X . 40025022 0.0 TTATC T str_contraction;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR X . 76807040 0.0 A G PASS 0/1 0 None None None None None None None None None ATRX|0.768191445|6.65%
View dipg0076_interval TUMOR X . 77022223 0.0 C T clustered_events;t_lod_fstar 0/1 0 None None None None None None None None None ATRX|0.768191445|6.65%
View dipg0076_interval TUMOR X . 77022247 0.0 A G clustered_events;t_lod_fstar 0/1 0 None None None None None None None None None ATRX|0.768191445|6.65%
View dipg0076_interval TUMOR 1 rs71935337
dbSNP Clinvar 		156825710 0.0 CGT C str_contraction 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 7 rs143254229,rs141268796,rs370107884
dbSNP Clinvar 		55147281 0.0 TTTTG T str_contraction 0/1 0 None None None 0.38838 0.38840 None None None None None None None
View dipg0076_interval TUMOR 7 . 55167717 0.0 G T t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 7 rs371139958
dbSNP Clinvar 		55219561 0.0 C T t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 7 rs845547
dbSNP Clinvar 		55234956 0.0 G T germline_risk;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 7 . 92462878 0.0 TCGC T str_contraction;t_lod_fstar 0/1 0 None None None None None None None None None CDK6|0.974469518|1.6%
View dipg0076_interval TUMOR 7 rs1055839992
dbSNP Clinvar 		92465671 0.0 A C alt_allele_in_normal;clustered_events 0/1 0 None None None None None None None None None CDK6|0.974469518|1.6%
View dipg0076_interval TUMOR 7 . 92465678 0.0 G C alt_allele_in_normal;clustered_events 0/1 0 None None None None None None None None None CDK6|0.974469518|1.6%
View dipg0076_interval TUMOR 7 . 92465681 0.0 A C clustered_events;multi_event_alt_allele_in_normal 0/1 0 None None None None None None None None None CDK6|0.974469518|1.6%
View dipg0076_interval TUMOR 7 . 92465685 0.0 T C alt_allele_in_normal;clustered_events 0/1 0 None None None None None None None None None CDK6|0.974469518|1.6%
View dipg0076_interval TUMOR 7 . 92465687 0.0 CA... C alt_allele_in_normal;clustered_events 0/1 0 None None None None None None None None None CDK6|0.974469518|1.6%
View dipg0076_interval TUMOR 7 rs38854
dbSNP Clinvar 		116357211 0.0 C T t_lod_fstar 0/1 0 None None None 0.34645 0.34640 None None None None None None MET|0.987477755|1.18%
View dipg0076_interval TUMOR 7 rs375772148,rs751660412
dbSNP Clinvar 		116421293 0.0 CCT C str_contraction 0/1 0 None None None None None None None None None MET|0.987477755|1.18%
View dipg0076_interval TUMOR 9 . 87407944 0.0 C A t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 10 . 22614695 0.0 G T t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 11 . 108127369 0.0 C A PASS 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 15 . 88537989 0.0 C A t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 15 . 88644377 0.0 T C clustered_events;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 15 . 88644380 0.0 T G clustered_events;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 15 . 88657076 0.0 T TTTA clustered_events;multi_event_alt_allele_in_normal;triallelic_site 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 15 . 88657080 0.0 AA... A clustered_events;multi_event_alt_allele_in_normal 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 15 . 88657087 0.0 T TAC clustered_events;multi_event_alt_allele_in_normal 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 15 . 88657091 0.0 A G clustered_events;multi_event_alt_allele_in_normal 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 15 . 88657092 0.0 AATT A clustered_events;multi_event_alt_allele_in_normal 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 1 . 226258819 0.0 G T PASS 0/1 0 None None None None None None None None None H3F3A|0.999921271|0.17%
View dipg0076_interval TUMOR 4 . 55111747 0.0 G A clustered_events;multi_event_alt_allele_in_normal;t_lod_fstar 0/1 0 None None None None None None None None None None
View dipg0076_interval TUMOR 4 . 55111755 0.0 G A alt_allele_in_normal;clustered_events;t_lod_fstar 0/1 0 None None None None None None None None None None
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